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Genetics of Breast & Ovarian Cancer

PLEASE NOTE: Although "HBOC" (Hereditary Breast and Ovarian Cancer) generally has a more specific and limited definition, throughout these categories it is used more loosely as shorthand for any combination of strict HBOCand/or hereditary or familial isolated breast cancer and/or hereditary or familial isolated ovarian cancer and/or, in some instances, even sporadic breast or ovarian cancer (or some related risk factor or feature of their expression)—when dealing with possible genetic influences, as in association studies.

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General

This category includes, but is not limited to: Reviews and general discussions, usually covering multiple subject areas from the categories below; articles of a general nature intended for wider public audience; overview or review articles for a specific medical specialty (such as nurses, radiologists, etc.); papers on a general topic wider than just HBOC (Hereditary Breast and Ovarian Cancer), but covering HBOC topic(s) in reasonable detail; etc. Some of the references in this category are included in specific subcategories below, others are not, depending upon the depth to which they cover the topic of the subcategory.

Guidelines

Not just clinical guidelines themselves, but any papers dealing with any aspect of guidelines, such as assessments of their effectiveness, assessments of providers' adherence to guidelines, press reports announcing new guideline's release, and so forth

All manner of clinical practice guidelines for prevention of cancers, surveillance and early detection, and any other clinical management for persons at high risk of, but not diagnosed with cancer. Also includes any practice guidelines for the prevention or detection of new cancers in cancer patients and survivors

Includes any clinical practices for the treatment or therapy of patients with existing cancer. (Contralateral prophylactic mastectomy, other surgeries and medical/hormonal treatments to prevent additional primary cancers or recurrence in cancer patients can also be considered preventive and may be included in "Management Guidelines", as well.)

Any papers with significant coverage of family histories with cancers beyond breast and ovarian cancer, or with non-cancer phenotypes/conditions. Also includes unusual subtypes of breast and ovarian cancer.

Provider practices concerning family history collection, ascertainment, and utilization, and approaches to enhance these. Patient knowledge and accuracy in providing family history; tools to assist patient provision of family history information.

Psychosocial aspects, features, and concerns of male breast cancer, male BRCA1/2 mutation carriers and family members, and of other cancers and conditions associated with males and BRCA1/2 mutation status

Models, tools, calculators, methods to ascertain those at high risk of breast and/or ovarian cancer, from papers with little or no emphasis on mutation detection, but more focused on the cancer risk itself

Psychosocial Topics in HBOC

Dealing more specifically with psychosocial concerns regarding: Any features of, associations with, or risks of a family history of breast cancer and/or ovarian cancer, or other cancers or conditions that have been associated with these.

Psychosocial aspects, features, and concerns of male breast cancer, male BRCA1/2 mutation carriers and family members, and of other cancers and conditions associated with males and BRCA1/2 mutation status

Articles or methods for increasing knowledge/awareness of such topics (including popular press articles covering HBOC and related); Measures or surveys of public (or subgroups') knowledge of such topics. Includes breast/ovarian cancer risk perceptions, knowledge/opinions on breast/ovarian cancer causes/risk factors, awareness/knowledge of HBOC and genetic testing/counseling, etc.

Any aspect of the "Angelina Jolie Effect", particularly on increased uptake of various genetic services related to breast/ovarian cancer risk; includes responses of genetics professionals and other health care providers

Includes BRCA1/2 polymorphisms/SNPs, mutations in control regions or non-exon portions of the genes, elements physically linked to BRCA1/2 that may modify their expression (See BRCA1/2 Modifiers ~ Mutation Spectrum for elements that are separate from BRCA1/2 but may modify their expression.)

Elements physically separate from BRCA1/2 that may modify their expression. Includes double heterozygosity, when the separate element is a cancer predisposition gene in its own right. Also includes polymorphisms/SNPs (other than those in BRCA1/2 themselves) that may effect BRCA1/2 expression, when in the presence of BRCA1/2 mutations.

For HBOC-related or -suspected cancers other than "breast cancer". Includes studies concerning isolated subtypes of breast cancer (e.g. lobular breast cancer, triple-negative breast cancer, etc.) and of ovarian cancer alone or of isolated subtypes of ovarian cancer and of "other" cancers that may appear to be associated with HBOC. For mutation spectrum associated with prostate cancer, see the dedicated section, HBOC-Related Prostate Cancer Mutation Spectrum.

Papers dealing with any differences or changes seen at the cellular or tissue level in BRCA1/2 carriers or other forms of inherited/familial breast/ovarian cancer. (Category extends beyond the traditional oncological use of the term "pathology".) Includes various forms of molecular differences (protein, RNA, hormone, etc.), gene expression, structural differences, etc. Concerns not just tumor tissue, but any normal tissue type as well, in affected or unaffected individuals. Basically, any tissue or cellular features that may potentially differ in any HBOC-related subgroup.

Management

For the categories "Management" and "Cancer Therapy / Treatment", "management" is considered a separate entity from "treatment" or "therapy". Treatment or therapy is defined here as topics concerning action taken to treat existing cancer. "Management" is limited to individuals without diagnosed cancer—for purposes of preventing cancer or detecting the new occurrence of cancer, and to cancer survivors beyond the treatment phase of active cancer—for purposes of preventing or detecting new or recurrent cancers, or general follow-up of survivors' health. (Also note that some forms of preventive "management", such as contralateral prophylactic mastectomy, can take place during the active treatment of cancer patients, and can be included in the Management category as well.)

All manner of clinical practices for prevention of cancers, surveillance and early detection, and any other clinical management for persons at high risk but not diagnosed with cancer. Also includes any practices for the prevention or detection of new cancers in cancer patients and survivors.

Cancer Therapy / Treatment

Note on Usage: Treatment or therapy is defined here as topics concerning action taken to treat existing cancer. "Management" is limited to individuals without diagnosed cancer—for purposes of preventing cancer or detecting the new occurrence of cancer, and to cancer survivors beyond the treatment phase of active cancer—for purposes of preventing or detecting new or recurrent cancers, or general follow-up of survivors' health. (Also note that some forms of preventive "management", such as contralateral prophylactic mastectomy, can take place during the active treatment of cancer patients, and can be included in the Management category as well.)

Includes any clinical practices for the treatment or therapy of patients with existing cancer. (Contralateral prophylactic mastectomy, other surgeries and medical/hormonal treatments to prevent additional primary cancers or recurrance in cancer patients can also be considered preventive and may be included in "Management Guidelines", as well.)

References combining topics of medical treatment of breast, ovarian, and/or other cancers of the HBOC spectrum. Includes research on or application of PARP inhibitors for treatment of cancers other than typical HBOC breast and ovarian tumors. See Medical Treatment ~ Breast Cancer and Medical Treatment ~ Ovarian Cancer for the latter.

Note: Oophorectomy to reduce breast cancer risk as part of breast cancer treatment is included here. References concerning oophorectomy for treating ovarian cancer are located in "Surgical Treatment ~ Ovarian Cancer".

Note: Oophorectomy for treating ovarian cancer is included here. References concerning oophorectomy to reduce breast cancer risk as part of breast cancer treatment are located in "Surgical Treatment ~ Breast Cancer".